PsyMuKB

Visualization of regulatory element with DNMs in transcripts

Visualization of de novo variants in transcripts

Visualization of original de novo CNV set

There is no corresponding data published yet, we will update it when such data available.

Transcripts

Transcript ID	Transcript exon region	Coding exon region
ENST00000542601	[[18893582, 18893771], [18893863, 18894003], [18895000, 18895173], [18895705, 18895902], [18896307, 18896356], [18896482, 18896661], [18896774, 18896956], [18897048, 18897101], [18897341, 18897460], [18898299, 18898459], [18899020, 18899128], [18899218, 18899323], [18899400, 18899559], [18899647, 18899722], [18899968, 18900106], [18900750, 18900923], [18901370, 18901422], [18901658, 18902114]]	[[18893724, 18893771], [18893863, 18894003], [18895000, 18895173], [18895705, 18895902], [18896307, 18896356], [18896482, 18896661], [18896774, 18896956], [18897048, 18897101], [18897341, 18897460], [18898299, 18898459], [18899020, 18899128], [18899218, 18899323], [18899400, 18899559], [18899647, 18899722], [18899968, 18900106], [18900750, 18900923], [18901370, 18901422], [18901658, 18901724]]
ENST00000222271	[[18893582, 18893771], [18893863, 18894003], [18895000, 18895173], [18895705, 18895902], [18896307, 18896356], [18896482, 18896661], [18896774, 18896956], [18897048, 18897101], [18897341, 18897460], [18898299, 18898459], [18899020, 18899128], [18899218, 18899323], [18899400, 18899559], [18899647, 18899722], [18899968, 18900106], [18900750, 18900923], [18901370, 18901422], [18901658, 18901744], [18901999, 18902123]]	[[18893724, 18893771], [18893863, 18894003], [18895000, 18895173], [18895705, 18895902], [18896307, 18896356], [18896482, 18896661], [18896774, 18896956], [18897048, 18897101], [18897341, 18897460], [18898299, 18898459], [18899020, 18899128], [18899218, 18899323], [18899400, 18899559], [18899647, 18899722], [18899968, 18900106], [18900750, 18900923], [18901370, 18901422], [18901658, 18901744], [18901999, 18902078]]
ENST00000425807	[[18893583, 18893771], [18893863, 18894003], [18895000, 18895173], [18895705, 18895902], [18896307, 18896356], [18896482, 18896661], [18896774, 18896956], [18897048, 18897101], [18897341, 18897460], [18898299, 18898459], [18899020, 18899128], [18899218, 18899323], [18899400, 18899559], [18899647, 18899701], [18900750, 18900923], [18901370, 18901422], [18901658, 18901744], [18901999, 18902114]]	[[18893724, 18893771], [18893863, 18894003], [18895000, 18895173], [18895705, 18895902], [18896307, 18896356], [18896482, 18896661], [18896774, 18896956], [18897048, 18897101], [18897341, 18897460], [18898299, 18898459], [18899020, 18899128], [18899218, 18899323], [18899400, 18899559], [18899647, 18899701], [18900750, 18900923], [18901370, 18901422], [18901658, 18901744], [18901999, 18902078]]
ENST00000546510	[[18896927, 18896956], [18897048, 18897101], [18897341, 18897844]]	None
NM_000095	[[18893582, 18893771], [18893863, 18894003], [18895000, 18895173], [18895705, 18895902], [18896307, 18896356], [18896482, 18896661], [18896774, 18896956], [18897048, 18897101], [18897341, 18897460], [18898299, 18898459], [18899020, 18899128], [18899218, 18899323], [18899400, 18899559], [18899647, 18899722], [18899968, 18900106], [18900750, 18900923], [18901370, 18901422], [18901658, 18901744], [18901999, 18902114]]	[[18893724, 18893771], [18893863, 18894003], [18895000, 18895173], [18895705, 18895902], [18896307, 18896356], [18896482, 18896661], [18896774, 18896956], [18897048, 18897101], [18897341, 18897460], [18898299, 18898459], [18899020, 18899128], [18899218, 18899323], [18899400, 18899559], [18899647, 18899722], [18899968, 18900106], [18900750, 18900923], [18901370, 18901422], [18901658, 18901744], [18901999, 18902078]]

Promoter

Chrom	Start	End	Description
chr19	18897375	18897390	CAGE_peak_4_at_COMP_5end
chr19	18897406	18897417	CAGE_peak_6_at_COMP_5end
chr19	18897438	18897467	CAGE_peak_3_at_COMP_5end
chr19	18898325	18898337	CAGE_peak_2_at_COMP_5end
chr19	18901737	18901749	CAGE_peak_7_at_COMP_5end
chr19	18902106	18902122	CAGE_peak_1_at_COMP_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I018798	18798482	18799530	0.8	[{'connected_gene': 'UBA52', 'score': 4.28}, {'connected_gene': 'COMP', 'score': 0.44}, {'connected_gene': 'UPF1', 'score': 0.29}, {'connected_gene': 'GC19P020256', 'score': 0.26}]
chr19	GH19I018795	18795792	18795941	0.38	[{'connected_gene': 'UPF1', 'score': 12.63}, {'connected_gene': 'REX1BD', 'score': 10.82}, {'connected_gene': 'COMP', 'score': 0.77}, {'connected_gene': 'GC19P020256', 'score': 0.28}]
chr19	GH19I018775	18775602	18777113	0.6	[{'connected_gene': 'UPF1', 'score': 12.3}, {'connected_gene': 'COMP', 'score': 9.57}, {'connected_gene': 'GC19M018784', 'score': 0.44}, {'connected_gene': 'GC19P020256', 'score': 0.37}, {'connected_gene': 'CRTC1', 'score': 0.16}]
chr19	GH19I018019	18019775	18025420	1.79	[{'connected_gene': 'LOC440514', 'score': 550.77}, {'connected_gene': 'ARRDC2', 'score': 19.41}, {'connected_gene': 'IFI30', 'score': 19.24}, {'connected_gene': 'ENSG00000268030', 'score': 12.34}, {'connected_gene': 'GTPBP3', 'score': 11.35}, {'connected_gene': 'COMP', 'score': 6.12}, {'connected_gene': 'UBA52', 'score': 4.76}, {'connected_gene': 'LRRC25', 'score': 4.62}, {'connected_gene': 'JUND', 'score': 2.54}, {'connected_gene': 'FCHO1', 'score': 2.28}, {'connected_gene': 'MAP1S', 'score': 2.22}, {'connected_gene': 'ELL', 'score': 1.64}, {'connected_gene': 'PDE4C', 'score': 1.46}, {'connected_gene': 'IL12RB1', 'score': 1.45}, {'connected_gene': 'MAST3', 'score': 1.38}, {'connected_gene': 'KCNN1', 'score': 1.26}, {'connected_gene': 'FAM129C', 'score': 1.21}, {'connected_gene': 'PGPEP1', 'score': 1.2}, {'connected_gene': 'LOC646666', 'score': 0.37}]
chr19	GH19I017996	17996892	18003332	2.49	[{'connected_gene': 'ARRDC2', 'score': 550.77}, {'connected_gene': 'COMP', 'score': 4.19}, {'connected_gene': 'RNA5SP468', 'score': 0.31}, {'connected_gene': 'KCNN1', 'score': 0.25}]
chr19	GH19I018736	18736529	18744213	1.41	[{'connected_gene': 'COMP', 'score': 7.07}, {'connected_gene': 'CRLF1', 'score': 5.91}, {'connected_gene': 'KXD1', 'score': 4.27}, {'connected_gene': 'GDF1', 'score': 1.56}, {'connected_gene': 'GDF15', 'score': 1.23}, {'connected_gene': 'PIR61287', 'score': 0.44}, {'connected_gene': 'GC19P020256', 'score': 0.37}, {'connected_gene': 'CRTC1', 'score': 0.22}]
chr19	GH19I018761	18761509	18765591	1.5	[{'connected_gene': 'COMP', 'score': 9.93}, {'connected_gene': 'CRLF1', 'score': 7.56}, {'connected_gene': 'TMEM59L', 'score': 6.06}, {'connected_gene': 'HAPLN4', 'score': 4.95}, {'connected_gene': 'KXD1', 'score': 4.33}, {'connected_gene': 'GC19P020256', 'score': 0.77}, {'connected_gene': 'GC19M018784', 'score': 0.34}, {'connected_gene': 'CRTC1', 'score': 0.18}]
chr19	GH19I018734	18734947	18736250	0.51	[{'connected_gene': 'COMP', 'score': 6.51}, {'connected_gene': 'KXD1', 'score': 4.26}, {'connected_gene': 'PIR61287', 'score': 0.44}, {'connected_gene': 'GC19P020256', 'score': 0.34}, {'connected_gene': 'CRTC1', 'score': 0.23}]
chr19	GH19I018802	18802472	18802621	0.38	[{'connected_gene': 'COMP', 'score': 0.39}, {'connected_gene': 'UPF1', 'score': 0.31}]
chr19	GH19I018791	18791295	18791354	0.73	[{'connected_gene': 'COMP', 'score': 550.77}, {'connected_gene': 'GC19P020256', 'score': 0.29}, {'connected_gene': 'UPF1', 'score': 0.26}]
chr19	GH19I018841	18841357	18841980	0.31	[{'connected_gene': 'COMP', 'score': 11.77}, {'connected_gene': 'REX1BD', 'score': 11.25}, {'connected_gene': 'UPF1', 'score': 0.44}, {'connected_gene': 'PIR45819', 'score': 0.39}, {'connected_gene': 'GC19P020009', 'score': 0.39}]
chr19	GH19I018838	18838932	18839101	0.94	[{'connected_gene': 'COMP', 'score': 11.79}, {'connected_gene': 'REX1BD', 'score': 11.25}, {'connected_gene': 'UPF1', 'score': 0.44}, {'connected_gene': 'PIR45819', 'score': 0.39}, {'connected_gene': 'GC19P020009', 'score': 0.39}]
chr19	GH19I018842	18842993	18844181	0.87	[{'connected_gene': 'COMP', 'score': 11.77}, {'connected_gene': 'REX1BD', 'score': 11.25}, {'connected_gene': 'PIR45819', 'score': 0.44}, {'connected_gene': 'GC19P020009', 'score': 0.44}, {'connected_gene': 'UPF1', 'score': 0.39}]
chr19	GH19I018839	18839258	18840890	1.13	[{'connected_gene': 'COMP', 'score': 11.79}, {'connected_gene': 'REX1BD', 'score': 11.25}, {'connected_gene': 'HOMER3-AS1', 'score': 5.71}, {'connected_gene': 'UPF1', 'score': 0.44}, {'connected_gene': 'PIR45819', 'score': 0.39}, {'connected_gene': 'GC19P020009', 'score': 0.39}]
chr19	GH19I018846	18846144	18851376	1.18	[{'connected_gene': 'COMP', 'score': 12.37}, {'connected_gene': 'REX1BD', 'score': 11.71}, {'connected_gene': 'ENSG00000269694', 'score': 6.22}, {'connected_gene': 'HOMER3-AS1', 'score': 5.7}, {'connected_gene': 'PIR45819', 'score': 0.77}, {'connected_gene': 'GC19P020009', 'score': 0.77}, {'connected_gene': 'UPF1', 'score': 0.37}]
chr19	GH19I018026	18026571	18028021	0.57	[{'connected_gene': 'COMP', 'score': 6.59}, {'connected_gene': 'LOC440514', 'score': 0.77}, {'connected_gene': 'LOC646666', 'score': 0.39}]
chr19	GH19I018809	18809092	18810004	0.88	[{'connected_gene': 'COPE', 'score': 5.67}, {'connected_gene': 'COMP', 'score': 0.37}, {'connected_gene': 'UPF1', 'score': 0.34}]
chr19	GH19I018012	18012894	18019599	1.61	[{'connected_gene': 'IFI30', 'score': 13.75}, {'connected_gene': 'ARRDC2', 'score': 9.91}, {'connected_gene': 'JAK3', 'score': 5.84}, {'connected_gene': 'COMP', 'score': 5.22}, {'connected_gene': 'JUND', 'score': 4.61}, {'connected_gene': 'FCHO1', 'score': 4.24}, {'connected_gene': 'IL12RB1', 'score': 3.99}, {'connected_gene': 'LRRC25', 'score': 2.29}, {'connected_gene': 'MAP1S', 'score': 1.51}, {'connected_gene': 'ENSG00000279172', 'score': 0.44}, {'connected_gene': 'LOC440514', 'score': 0.44}]
chr19	GH19I018648	18648375	18651941	1.29	[{'connected_gene': 'ENSG00000268030', 'score': 21.31}, {'connected_gene': 'UPF1', 'score': 20.05}, {'connected_gene': 'ENSG00000268938', 'score': 17.76}, {'connected_gene': 'NR2C2AP', 'score': 15.96}, {'connected_gene': 'ENSG00000269191', 'score': 15.18}, {'connected_gene': 'MAU2', 'score': 13.83}, {'connected_gene': 'IQCN', 'score': 11.3}, {'connected_gene': 'MEF2B', 'score': 10.51}, {'connected_gene': 'ELL', 'score': 10.36}, {'connected_gene': 'CRTC1', 'score': 5.47}, {'connected_gene': 'KLHL26', 'score': 5.24}, {'connected_gene': 'SNORA68', 'score': 5.06}, {'connected_gene': 'KXD1', 'score': 4.93}, {'connected_gene': 'CRLF1', 'score': 4.21}, {'connected_gene': 'COMP', 'score': 2.44}, {'connected_gene': 'COPE', 'score': 2.22}, {'connected_gene': 'TMEM161A', 'score': 1.43}]
chr19	GH19I018730	18730983	18734124	1.05	[{'connected_gene': 'PIR61287', 'score': 550.77}, {'connected_gene': 'COMP', 'score': 6.35}, {'connected_gene': 'KXD1', 'score': 4.71}, {'connected_gene': 'GC19P020256', 'score': 0.31}, {'connected_gene': 'CRTC1', 'score': 0.25}]
chr19	GH19I018784	18784161	18786677	0.95	[{'connected_gene': 'GC19M018784', 'score': 550.77}, {'connected_gene': 'COMP', 'score': 0.44}, {'connected_gene': 'GC19P020256', 'score': 0.31}]
chr19	GH19I018756	18756551	18757739	0.66	[{'connected_gene': 'GC19P020256', 'score': 550.77}, {'connected_gene': 'CERS1', 'score': 12.03}, {'connected_gene': 'GDF1', 'score': 12.03}, {'connected_gene': 'COMP', 'score': 5.29}, {'connected_gene': 'PIR61287', 'score': 0.31}, {'connected_gene': 'CRTC1', 'score': 0.19}]